AffiliationDepartment of Neurology, Wayne State University, Detroit, MI 48201, USA. email@example.com
Aged, 80 and over
Genetic Diseases, X-Linked
X Chromosome Inactivation
MetadataShow full item record
CitationPhenotype expression in women with CMT1X. 2011, 16 (2):102-7 J. Peripher. Nerv. Syst.
JournalJournal of the peripheral nervous system : JPNS
AbstractCharcot-Marie-Tooth disease type 1X (CMT1X) is the second most common inherited peripheral neuropathy. Women with CMT1X typically have a less severe phenotype than men, perhaps because of X-inactivation patterns. Our objective was to determine the phenotype of women with CMT1X and whether X-inactivation patterns in white blood cells (WBCs) differ between females with CMT1X and controls. Thirty-one women with CMT1X were evaluated using the CMT neuropathy score (CMTNS) and the CMT symptom score in cross-sectional and longitudinal analyses. Lower scores correspond to less disability. WBCs were analyzed for X-inactivation pattern by androgen receptor X-inactivation assay in 14 patients and 23 controls. The 31 women's mean CMTNS was 8.35. Two-thirds of the cohort had a mild CMTNS (mean 4.85) and one-third had a moderate CMTNS (mean 14.73). Three patients had a CMTNS of 0. The pattern of X-inactivation did not differ between the affected and control groups. Women with CMT1X presented with variable impairment independent of age, type of mutation, or location of mutation. No evidence supported the presence of a gap junction beta-1 (GJB1) mutation affecting the pattern of X-inactivation in blood. Further studies are planned to determine whether X-inactivation is the mechanism for CMT1X females' variable phenotypes.
- X inactivation in females with X-linked Charcot-Marie-Tooth disease.
- Authors: Murphy SM, Ovens R, Polke J, Siskind CE, Laurà M, Bull K, Ramdharry G, Houlden H, Murphy RP, Shy ME, Reilly MM
- Issue date: 2012 Jul
- CMT1X phenotypes represent loss of GJB1 gene function.
- Authors: Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF
- Issue date: 2007 Mar 13
- Molecular genetics of X-linked Charcot-Marie-Tooth disease.
- Authors: Kleopa KA, Scherer SS
- Issue date: 2006
- Mild form of Charcot-Marie-Tooth type 1X disease caused by a novel Cys179Gly mutation in the GJB1/Cx32 gene.
- Authors: Moszyńka I, Kabzińska D, Kochański A
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- Charcot-marie-tooth disease type 1X in women: Electrodiagnostic findings.
- Authors: Jerath NU, Gutmann L, Reddy CG, Shy ME
- Issue date: 2016 Oct